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Renal and Urology > congenital abnormalities > Flashcards

congenital abnormalities Flashcards

1
Q

agenesis

A

is the absence of one or both of the kidneys

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2
Q

hypoplasia

A

small kidneys but normal development

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3
Q

horseshoe kidney

A

fusion at either pole of the kidney, most commonly at the lower pole

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4
Q

duplex collecting system

A

one of the most common congenital renal tract abnormalities characterised by incomplete fusion of the upper and lower pole of moieties resulting in a variety of complete or incomplete duplications of the renal system

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5
Q

PKD infantile type

A
  • autosomal recessively inherited

- associated with congenital hepatic fibrosis

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6
Q

benign renal tumours

A
  • fibroma
  • adenoma
  • angiomyolipoma
  • juxtaglomerular tumours
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7
Q

fibroma

A

benign tumour composed of fibrous tissue, medullary origin, white nodule

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8
Q

adenoma

A
  • most common benign renal tumour
  • arises in the cortex
  • yellowish nodules which are less than 2cm in size
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9
Q

angiomyolipoma

A
  • composed of fat, muscle and blood vessels, can be multiple and bilateral
  • associated with tuberous sclerosis
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10
Q

juxtaglomerural tumours

A

secrete renin and cause secondary hypertension

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11
Q

urothelial carcinomas can occur

A

at the renal pelvis or calyces

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12
Q

renal cell carcinoma is the

A

most common malignant renal cancer

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13
Q

renal cell carcinoma is most common in whom

A

elderly males

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14
Q

renal cell carcinoma arises from

A

the epithelial cells of the proximal convoluted tubules (part of the nephron which is in the renal cortex)

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15
Q

the most common type of renal cell carcinoma

A

is composed of polygonal epithelial cells and are filled with clear cytoplasms full of carbohydrates and lips (lipids give the yellow colour)

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16
Q

renal cell carcinomas have been linked to

A

mutations on the short arm of chromosome 3, one of the main genes involved is the VHL gene which codes for pVHL

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17
Q

pVHL is

A

von hippel lingua tumour supressor protein

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18
Q

mutation in pVHL

A

allows the iGF-1 pathway to go into over-drive allowing dysregulated cell growth and up regulates specific transcription factors called hypoxia inducing factors which generated VEGF and VEGF receptors causing the formation of new blood vessels (angiogenesis) which allows tumours to form

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19
Q

renal cell carcinomas can occur

A

sporadically or as part of an inherited syndrome

20
Q

sporadic renal cell carcinomas

A
  • usually solitary in the upper pole of the kidney,

- more common in older males who smoke

21
Q

inherited syndromes causing renal cell carcinomas

A

von hippel lindau syndrome which is caused by mutation of the VHL gene and causes CNS and retinal haemangioblastomas and renal cell carcinomas

22
Q

symptoms of renal cell carcinoma

A

haematuria, palpable abdominal mass, pain in flank region

23
Q

because renal cell carcinoma causes

A

chronic inflammation also causes fever and weight loss

24
Q

renal cell carcinomas also classically cause

A

various paraneoplastic syndromes

25
Q

paraneoplastic syndromes caused by renal cell carcinoma

A
  • tumour can produce erytopoetin which can cause excessive production of red blood cells causing polycythaemia
  • tumour can produce renin causing hypertension
  • tumour can produce PTHrP causing hypercalcaemia
  • tumour can produce ACTH causing cushings synrome
26
Q

in rare cases

A

large renal cell carcinoma of the left kidney can block the left renal vein and impede normal venous drainage of the left kidney causing dilation of the left testiualr vein causing a hydrocele (since the right testicualr vein drains directly into the inferior vena can blockage of the right renal veins does not have the same affect)

27
Q

renal cell carcinomas can invade

A

renal veins and spread into the inferior vena cava which can cause lung metastases and bone metastases

28
Q

staging of renal cell carincom

A 
T= size of tumour and whether it has spread to nearby areas
N= whether the tumour has spread to retroperitoneal nodes
M= degree of metastases
29
Q

management of renal cell carcinomas

A
  • surgical resection
  • chemokines and antibodies
  • molecular target therapy
30
Q

transitional cell carcinoma

A

is the most common form of malignant cancer in the lower urinary tract

31
Q

transitional cell carcinoma is more specifically known as

A

urothelial cell carcinoma

32
Q

urothelial cell carcinoma can affect

A

anywhere form the pelvicalyceal system to the urethra but 90% arise from the urothelium of the bladder

33
Q

urothelium is a specific type of

A

transitional cell epithelium that lines the inner surface of the majority of the urinary tract

34
Q

the urothelium is composed of

A

3-7 layers and forms a tight barrier that holds urine which prevents toxins moving back into the body

35
Q

barrier function of the urothelium is achieved by

A

the umbrella cells that line the luminal surface of the urothelium and are held together by high resitatnc tight junctions and are lined by a unique protein-lipid complex called a plaque

36
Q

the cells of the transitional epithelium have

A

the ability to stretch with an expanding bladder

37
Q

2 main forms of uroeithelial cell carcinmas

A
  1. mutations of the p53 gene (tumour suppressor protein) this allows urothelial cells to grow horizontally and some invade deeper bladder tissue
  2. independant of the p53 gene; papillary tumours grow outwards from the uroepithelium, they tend to be less aggressive as they tend not to invade deeper bladder tissues
38
Q

commonest présentation of uurothelial cell carcinoma

A

painless haematuria

39
Q

diagnosis of urothelial carcinoma

A

cystoscopy and biopsy

40
Q

risk factors for urothelial carcinoma

A
  • elderly
  • carcinogens: Pee SAC
    Phenacetin (banned analgesic)
    Smoking
    Aniline (dye and rubber)
    Cyclophosphamide
41
Q

75% of urothelial carcinomas arise

A

in the trigone of the bladder

42
Q

treatment of urothelial carcinoma

A
  • if tumour is localised and non-invasive then it may be able to be respected using trans-urethral resection which is followed by intra-vesical chemotherapy
  • if the cancer is aggressive then the bladder and prostate gland may have to be removed (cysts-prostatectomy) followed by chemotherapy
43
Q

other malignant tumours

A
  • adenocarcinoma= seen in long standing cystitis cystica
  • squamous carcinoma seen in recurrent calculi or schistosomiasis
  • embryonal rhabdomyosarcoma= commonest malignant bladder tumour in children
44
Q

nephroblastoma also known as

A

wilms tumour

45
Q

wilms tumour

A

commonest intra-abdominal tumour in children

Renal and Urology (51 decks)

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